ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC

dbSNP: rs1839537297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002564114 SCV001420386 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2022-08-10 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 64 (c.5136_5136+8delinsTGAATTCCCAC) of the COL5A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with COL5A1-related conditions.

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